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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/218330
http://purl.bioontology.org/ontology/OMIM/218330
|
|---|---|
| Preferred Name | CRANIOECTODERMAL DYSPLASIA 1 |
| Synonyms |
LEVIN SYNDROME I
SENSENBRENNER SYNDROME
CED1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LEVIN SYNDROME I
SENSENBRENNER SYNDROME
CED1
|
|---|---|
| prefLabel | CRANIOECTODERMAL DYSPLASIA 1
|
| Gene Symbol |
WDR10
IFT122
CED1
|
| notation | 218330
|
| Scope Statement | Clinical variability [MISCELLANEOUS]
Some affected individuals die in utero or in early infancy [MISCELLANEOUS]
Caused by mutation in the intraflagellar transport 122 gene (IFT122, 606045.0001). [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 3q21
|
| tui | T047
|
| cui | C0432235
|
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